Table 1

Phenotype groups of patients with ABCA3 mutations

GroupPhenotype (age (years))nPercentage of cohortPt IDMutationType of mutationsPresentation (age (years))Follow-up (age (years))
(1) Early lethal
(1a)(Post)neonatal death (<0.5)2562.5(cf online supplementary table S1)(cf online supplementary table S1)9 null/null
3 null/other
13 other/other
RDS (neonatal)Dead (median 0.19, 0–0.32)
(1b)Death early childhood (0.5–5) 512.5 4p.W308R
p.W308R
Other/otherRDS (neonatal)LTX (1.5, stable 3.3)
19p.delEx16
p.delEx16
Null/nullRDS (neonatal)LTX (1.5, dead 4.1)
24p.P193S
p.G1412R
Other/otherRDS (neonatal)LTX (0.6, dead 0.7)
27p.R43C
p.R208W
Other/otherCough, failure to thrive (0.9)Dead (4.5)
28p.P32S
p.G1314E
Other/otherCough, failure to thrive, cyanosis (0.5)Dead (3.6)
(2) Prolonged survival
Prolonged survival (>5) 717.537p.E292V
p.E765X
Null/otherRDS (neonatal)Sick-better (7)
32p.D953H
p.F1077I
Other/otherHypoxaemia, clubbing, mycoplasm pneumonia (2.2)Sick-same (7.4)
35p.P969S
p.D1439Gfs*11
Null/other6 days RDS (neonatal), discharge day 11Sick-same (8.8)
11p.G964D
p.G964D
Other/otherCough, PAP (2)Sick-same (16)
    12p.G964D
p.G964D
Other/otherCough, dyspnoea (52)Sick-same (57)
13p.G964D
p.G964D
Other/otherNone (52)Sick-same (57)
31p.R709W
p.I1193M
Other/otherdyspnoea at exercise, PAP (33)Sick-same (36)
Patients with observation periods too short for definite allocation
likely group
(1a) or higher9p.Q1045R
p.Q1045R
Other/otherRDS (neonatal)sick-better (0.46)
(1b) or higher23p.R208W
c.3863-98C>T
Other/otherGestational age 32 weeks, RDS (neonatal)sick-same (2.7)
(1b) or higher33p.Y963C
p.E292V
Other/otherNAsick-same (3)
  • LTX, lung transplantation; NA, not available; PAP, pulmonary alveolar proteinosis; RDS, respiratory distress syndrome.